Canonical Allele Identifier: CA129334

Gene: SHANK3

Linked Data - Predicted Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50698797C>T , CM000684.2:g.50698797C>T	GRCh38
NC_000022.10:g.51137225C>T , CM000684.1:g.51137225C>T	GRCh37
NC_000022.9:g.49484091C>T	NCBI36
NG_008607.2:g.29443C>T
NG_070230.1:g.34661C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1207C>T	ENSP00000489147.2:p.Arg403Trp
ENST00000414786.7:n.1791C>T
ENST00000445220.7:c.259C>T	ENSP00000489407.2:p.Arg87Trp
ENST00000673971.2:c.1564C>T	ENSP00000501192.1:p.Arg522Trp
ENST00000445220.6:c.259C>T	ENSP00000489407.2:p.Arg87Trp
ENST00000262795.6:c.1207C>T	ENSP00000489147.2:p.Arg403Trp
ENST00000673838.1:n.232C>T
ENST00000673971.1:c.1564C>T	ENSP00000501192.1:p.Arg522Trp
ENST00000673995.1:c.459C>T
ENST00000674010.1:n.452C>T
ENST00000674145.1:n.799C>T
ENST00000262795.5:c.1603C>T	ENSP00000489147.1:p.Arg535Trp
ENST00000414786.6:n.1791C>T
ENST00000445220.5:c.1585C>T	ENSP00000489407.1:p.Arg529Trp